No paralogue variants have been mapped to residue 4950 for RYR2.
RYR2 | FFLMYLINKDETEHTGQESYVWKMYQERCW>E<FFPAGDCFRKQYEDQLN | 4967 |
RYR1 | FFLMYLINKDETEHTGQESYVWKMYQERCW>D<FFPAGDCFRKQYEDQLS | 5038 |
RYR3 | FFLMYLINKDETEHTGQESYVWKMYQERCW>D<FFPAGDCFRKQYEDQLG | 4870 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4950K | c.14848G>A | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: benign | |
Reports | Inherited Arrhythmia | CPVT | Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002 106(1):69-74. 12093772 | ||
Inherited Arrhythmia | CPVT | New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405 | |||
p.Glu4950Gln | c.14848G>C | Unknown | SIFT: Polyphen: |